P15T (p.Pro15Thr) variant of DYSF (Dysferlin)
P15T (p.Pro15Thr) in DYSF (Dysferlin) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.58 / 1. The record also includes population frequency data, published literature, and structural context.
P15T (p.Pro15Thr) variant details
- p.Pro15Thr
- gnomAD 2-71466909-C-A
- Missense
- Variant Prioritization Score for Impact Estimate 0.576
- REVEL 0.47
- CADD 23.80
- PolyPhen-2 0.24
- SIFT 0.00
- Most common in the East Asian population (allele frequency 2.8e-05)
- Structural context available
- Literature evidence available